Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000998935 | SCV001155295 | likely pathogenic | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
St. |
RCV003114237 | SCV003798489 | pathogenic | Cortical dysplasia-focal epilepsy syndrome | 2023-02-08 | criteria provided, single submitter | research | Variant one AGMC classification: PVS1, PM2, PM3 |